Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA)

Stable Identifier
R-HSA-5619050
Type
Pathway
Species
Homo sapiens
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The proteins responsible for the exchange of Cl- with HCO3- are members of the SLC4 (1-3) and SLC26 (3, 4, 6, 7 and 9) transporter families. SLC4A1 (Band 3, AE1, anion exchanger 1) was the first bicarbonate transporter gene to be cloned and sequenced. It is ubiquitous throughout vertebrates and in humans, is the major glycoprotein present on erythrocytes and the basolateral surfaces of kidney cells. Variations in erythroid SLC4A1 determine the Diego blood group system. Mutations in the erythrocyte form of SLC4A1 can cause hereditary spherocytosis type 4 (HSP4; MIM:612653), a disorder leading to haemolytic anaemia (HA). Some mutations in SLC4A1 can cause distal (type1) renal tubular acidosis (dRTA; MIM:179800) (an inability to acidify urine) and dRTA-HA (dRTA with hemolytic anemia) (MIM:611590) (Tanner 2002, Romero et al. 2013).

Literature References
PubMed ID Title Journal Year
11844997 Band 3 anion exchanger and its involvement in erythrocyte and kidney disorders

Tanner, MJ

Curr. Opin. Hematol. 2002
23506864 The SLC4 family of bicarbonate (HCO??) transporters

Romero, MF, Chen, AP, Parker, MD, Boron, WF

Mol. Aspects Med. 2013
Participants
Participant Of
Disease
Name Identifier Synonyms
renal tubular acidosis 14219
hereditary spherocytosis 12971 Minkowski Chauffard syndrome, Congenital spherocytic hemolytic anemia, spherocytic anemia
Cross References
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